ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) (rs778791031)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664899 SCV000788929 uncertain significance Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-01-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731346 SCV000859152 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
Invitae RCV001247917 SCV001421370 uncertain significance Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 163 of the PEX6 protein (p.Arg163Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs778791031, ExAC 0.1%). This variant has not been reported in the literature in individuals with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 550215). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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